Veterinary Dermatology 2002, 13, 307 313

Blackwell Science, Ltd

Congenital hypotrichosis with anodontia in cattle: A genetic,

clinical and histological analysis
CORD DRGEMLLER*, HEIDI KUIPER*, MARTIN PETERS, SILVIA GUIONAUD,
OTTMAR DISTL* and TOSSO LEEB*
*Institute of Animal Breeding and Institute of Pathology, School of Veterinary Medicine Hannover,
Hannover, Germany
(Received 22 April 2002; accepted 15 August 2002)

Abstract Hypotrichosis, an almost complete lack of teeth and the complete absence of eccrine nasolabial glands,
was observed among the progeny of a normal cow of the black and white German Holstein breed. Similar
congenital anomalies are known in humans and mice as X-linked anhidrotic ectodermal dysplasia (ED1), leading
to the impaired formation of hair, teeth and sweat glands. The pedigree of the four affected male calves in the
investigated cattle family indicated that the described phenotype is inherited as a monogenic X-linked recessive
trait. We used a diagnostic reverse transcriptionpolymerase chain reaction (RTPCR) assay to study the heredity
of a previously reported causative large genomic deletion in the bovine ED1 gene. This test allowed the unequivocal classification of disease carriers that were phenotypically normal. As the clinical, pathological and genetic
findings in human ED1 show striking similarities to the described phenotype in cattle, this bovine disorder may
serve as an animal model for human ED1.
Keywords: anodontia, cattle, ED1, hypotrichosis, inheritance, molecular genetics

INTRODUCTION
Congenital X-linked hypotrichosis with missing teeth
in cattle is characterized by abnormal morphogenesis
of teeth, hair follicles and eccrine sweat glands. Two
different forms can be distinguished according to the
severity of the tooth defects: (i) congenital hypotrichosis with complete or almost complete anodontia
(hypotrichosis anodontia defect, HAD); (ii) congenital
hypotrichosis with completely missing incisors or
defective incisors (hypotrichosis incisor defect, HID).
Impaired body condition and growth of the affected
animals result from missing teeth. In addition, animals
with sparse hair coat are more susceptible to cold and
more prone to skin lesions. Feed intake is reduced in
older calves due to the inability to ingest, chew and
digest hay, grass or other longer fibres. The chances of
survival decrease as animals get older, because rumination cannot be developed. Under common production
conditions anodontia or severe oligodontia is a lethal
defect. Sporadic cases of congenital hypotrichosis with
complete or nearly complete anodontia (HAD) in
cattle have occasionally been reported.1,2 A familial
form of HAD in a pedigree with three affected male
calves has also been described.3 The cytogenetic investigation of a female Simmental Red Holstein crossbred

Correspondence: Tosso Leeb, Institute of Animal Breeding and

Genetics, School of Veterinary Medicine Hannover, Bnteweg 17P,
30559 Hannover, Germany. Tel. +49-511-953-8874; Fax: +49-5119538582; E-mail: Tosso.Leeb@tiho-hannover.de
2002 Blackwell Science Ltd

heifer with hypotrichosis and poor tooth development

showed an Xq-deletion and a partially inactivated
normal X chromosome.2 The second type of deficient
development of hair, skin glands and teeth (HID) is
characterized by missing incisors, short silky hair,
reduced number of hair follicles and hair follicles of
small calibre. A pedigree with four bull calves showing
severe congenital hypotrichosis and incisor anodontia
(HID) and three mildly affected females exhibiting
short, stubby lustreless coats has been explained by an
X-linked incompletely dominant inheritance.4
A condition phenotypically very similar to HAD in
cattle is known in man as X-linked anhidrotic ectodermal
dysplasia (ED1, also called EDA, XLHED or Christ
SiemensTouraine syndrome; Mendelian Inheritance
in Man no. MIM3051005) characterized by abnormal
hair, atrichosis or hypotrichosis, abnormal or missing
teeth, and missing or reduced number of sweat glands
and respiratory tract mucous glands. 6 Numerous
different mutations in the ED1 gene located on the X
chromosome have been shown to be responsible for the
phenotype in man711 and in the Tabby mouse mutant.12
The human ED1 gene encodes two different ectodysplasin 1 isoforms, trimeric transmembrane proteins
that represent members of the tumour necrosis factor
(TNF)-related ligand family.13 The precise function of
these ED1-encoded proteins for the development of
ectodermal appendages still remains unclear.14 The
bovine ED1 gene has been mapped on the bovine X
chromosome by linkage analysis and fluorescence in
situ hybridization (FISH).15,16 Cloning and partial
sequencing revealed that a large genomic region
307

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C. Drgemller et al.

Figure 1. (a) Pedigree of the calves affected

with hypotrichosis and oligodontia. Squares
represent male animals and circles female
animals. Solid black symbols indicate animals
that are affected by the HAD phenotype.
Animal 18 was born dead and no samples were
available from this animal, however, the owner
described its phenotypic appearance as
normal. For reasons of clarity the animals
are not sorted by age in this pedigree. (b) RT
PCR amplification of ED1 mRNA. Skin
RNA from eight family members (a) and
one control animal (wt) was reverse transcribed and a 481-bp ED1 cDNA fragment
was amplified. The RTPCR product of
three affected animals corresponds to an
ED1 cDNA lacking the 106 bp exon 3.
(M: 1 kb-ladder, c: negative control without
cDNA template).

Table 1. Genealogy and phenotypes of the animals studied

No. teeth
Upper jaw

Lower jaw

Hypotrichosis

Animal

Date of birth

Sex

Sire

Mother

left

right

left

right

Head

Neck

Body

9
19
18
17
16
20
14
21
6
13

05/07/93
09/29/95
09/14/96
11/24/97
01/29/99
12/14/99
01/29/01
04/04/01
12/04/96
03/10/01

F
M
M
M
F
M
M
F
F
F

3
8
2
2
2
10
7
15
2
7

1
9
9
9
9
9
9
16
1
6

n
2
n.d.
2
n
2
2
n
n
n

n
2
n.d.
3
n
2
2
n
n
n

n
2
n.d.
1
n
2
1
n
n
n

n
2
n.d.
2
n
2
1
n
n
n

+++

++

++
+

+++

++

++
+

++/

+/

+/
+/

n, normal dentition; n.d., not determined; degree of hypotrichosis: +, mild; ++, moderate; +++, severe.

including exon 3 of the ED1 gene is deleted in HADaffected cattle.17

The objective of this study was the detailed analysis
of the phenotype and inheritance of hypotrichosis with
nearly complete anodontia (HAD) in a pedigree with
four affected male German Holstein calves. In addition,
a reverse transcriptionpolymerase chain reaction
(RTPCR) assay detecting the previously reported
causative deletion in the bovine ED1 gene was applied
to identify unaffected female carrier animals.

MATERIALS AND METHODS

Animals
In 1995, we observed the first case of an almost hairless
male calf with defective teeth. In the following years
three further male calves were born with very similar
conditions in the same herd (Mendelian inheritance in
animals no. MIA00054318,19). The pedigree showed
2002 Blackwell Science Ltd, Veterinary Dermatology, 13, 307 313

that all affected male calves descended from the

same mother and granddam (Fig. 1a). The first observed
proband (19) was slaughtered at the age of three
months. The second proband (17) was kept to the age
of 2.5 years. Two probands (14, 20) are still alive
(Table 1) at the time of writing. The animals were fed
with chaffed green cobs consisting of very short fibres.
This diet was well tolerated by the animals. Furthermore,
the animals were kept on sawdust to avoid any accidental ingestion of long straw fibres.
The entire head, sex organs, thyroid glands, adrenal
glands, and pituitary gland of the second proband (17)
were examined macroscopically and histological
sections of the endocrine glands, testicles, liver, kidney,
spleen and several cutaneous locations (forehead,
eyebrow, eyelid, ear, muzzle, back, and ventral chest and
abdomen) were performed. We also took cutaneous
punch biopsies of 6 mm diameter from the cheek, neck,
ear, ventral chest and muzzle of the third proband (20)
at 6 weeks of age. All samples were fixed in 10% neutral

Congenital hypotrichosis with anodontia

309

buffered formalin, embedded in paraplast, cut at 3 m

thickness and stained with haematoxylin and eosin
(H&E). Consecutive sections were prepared from all
skin samples.
Chromosome preparation
Chromosome preparations were obtained from heparinized blood samples. Blood samples were incubated
with medium, antibiotics and phytohaemagglutinin
for 72 h at 38 C and in 5% CO2/air. Colcemid was added
at a final concentration of 15 mg mL1 for 1.5 h before
harvesting. Chromosome preparation followed routine
methods for hypotonic treatment with 0.075 KCl and
fixation with 3:1 methanol/glacial acetic acid. Air-dried
slides were stained with giemsa or giemsatrypsin
giemsa (GTG) banding was performed. Metaphase
chromosomes were photographed with a computercontrolled CCD camera and processed with
2.3 software.
RTPCR
Cutaneous punch biopsies, 6 mm diameter, were taken
from the ventral chest of eight family members and
immediately stored in liquid nitrogen. TRIZOL
reagent (Life Technologies, Heidelberg, Germany) was
used to extract total RNA from bovine skin according
to the manufacturers protocol. Aliqouts of 1 g total
RNA were reverse transcribed into cDNA using 20 pmol
(T)24V primer and Omniscript Reverse Transcriptase
(Qiagen, Hilden, Germany) in 20 L reactions. A pair
of primers (cED1_F2 5-CTGACGTTGTGCTGCTACCTAG-3; cED1_R2 5-GTCCCATAACAGTTGTTCCTGG-3) was designed to amplify a 481 bp fragment
of the ED1 cDNA including the complete exon 3. PCR
was performed in 25 L reactions containing 2 L of
the cDNA as template, 100 dNTPs, 20 pmol of
each primer, and 2.5 U Taq DNA polymerase in the
reaction buffer supplied by the manufacturer (Qiagen).
After 5 min initial denaturation at 94C, 40 cycles
of 30 s at 94C, 1 min at the annealing temperature
of 60C, and 45 s at 72C were performed in a MJ
Research thermocycler (Biozym, Hess. Oldendorf,
Germany). RTPCR products were separated on 1%
agarose gels and visualized by a UV light source after
staining with ethidium bromide.

RESULTS
Clinical description
In all four probands (14, 17, 19, 20) the number of hairs
per surface area was noticeably diminished on the
head, ear pinnae, neck, back and tail (Table 1, Fig. 2).
The few hairs on these body parts were short and thin.
Especially around the eyes and on the pinnae, the hair
was very sparse. The backs of the pinnae were completely hairless in all four probands. Eyelashes and
vibrissae were few and unusually short. The hair on the
prepuce was half the normal length. The tail switch was
about one third normal length. A longer and more

Figure 2. Black and white German Holstein calf affected with

hypotrichosis and oligodontia (HAD). Note the sparse haircoat,
which is most obvious around the eyes. Another characteristic of
HAD is the completely dry muzzle.

intense hair coat was present on the flanks, ventral

abdomen and chest, on the front legs up to the elbows,
and on the hind legs up to the pelvic region. The
deficiency of the hair coat was more severe in newborn
and younger animals, and fine hairs developed in older
animals. The degree of hypotrichosis was not identical
in all four probands. The thinnest hair coat at birth and
later in life was observed in the first proband (14),
which had almost no hair on its face or the upper part
of the neck. The horns appeared normal. The head and
neck skin, which wrinkled easily, was thin and smooth.
Because of the sparse hair coat and thin skin the calves
were rather susceptible to excoriations on exposed body
parts such as the hocks, elbow, fetlock and carpal
joints. Dentition was incomplete in all four cases, but
the number of missing teeth varied among the affected
calves (Table 1). We found one to three molars on one
side in the upper jaw, whereas in the lower jaw only one
or two molars were present. The incisors were missing
completely. All teeth were long and pointed with a
comparatively smooth surface. The maxillar arcus of
the teeth was abnormally short and convex. It should
also be noted that the primary dentition was permanent;
no secondary teeth developed. The muzzle was dry with
a rather smooth surface. The sex organs, endocrine
glands and all other internal organs appeared
normal.
Histopathological description
In numerous skin samples from the second proband
(17) we observed all stages of follicular growth. There
was a complete absence of hair follicles and appendages on the backs of the ears (Fig. 3). Hair follicle density was reduced on the inner side of the ear and the
ventral abdomen. Although the density of apocrine
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C. Drgemller et al.

Figure 3. Histologic sections of the skin from

the back of the ear pinna. (a) Bull no. 17. Hair
follicles are completely absent. (b) Control
animal of the same age and breed. Normal
skin with epidermal adnexa. Scale bar = 75 m
(e: epidermis, fo: hair follicle; sg: apocrine
sweat gland, seg: sebaceous gland; c: ear
cartilage).

sweat glands was markedly reduced on the head, this

was not the case in the ventral chest area. The apocrine
sweat glands were formed by a cuboidal epithelium and
appeared slightly dilated and less tortuous than usual.
The ducts of the apocrine glands appeared normal,
and the glands secreted actively. Sebaceous glands and
arrector pili muscles were normal. On the muzzle, we
could not detect any eccrine nasolabial glands (Fig. 4).
Histological sections of the third proband (20) revealed
slight to moderate hyperkeratosis and a generally moderate reduction of hair follicles and their appendages,
which was marked on the neck. No hair follicles were
observed on the back of the ears. All hair bulbs were
small and poorly differentiated. Sebaceous glands
and arrector pili muscles were normal, and there was
an appropriate number of sweat glands. No eccrine
nasolabial glands were present in biopsies of the muzzle.
Genetic analysis
The segregation pattern can be best explained by an Xlinked, monogenic recessive inheritance. An autosomal
2002 Blackwell Science Ltd, Veterinary Dermatology, 13, 307 313

recessive mode of inheritance is unlikely because HAD

is a very rare defect and therefore the joint probability
of all four sires being heterozygous is negligible,
especially as these animals had different genealogical
origins. We were not able to detect either chromosomal
abnormalities in the karyotypes of three affected bulls
(14, 17, 20) (2n = 60, XY) or in the dam or sister of
these bulls (9, 16) (2n = 60, XX).
RTPCR
To investigate the genotypes in the causative ED1 gene,
skin RNA from eight animals was reverse transcribed
and amplified using a forward primer located in exon 1
and a reverse primer located in exon 5 covering 481 bp
in normal cattle, which represents the wild-type allele
(Fig. 1b). The RTPCR product of the three affected
male animals that were examined (14, 17, 20) corresponds to a truncated ED1 cDNA lacking the 106 bp
exon 3 (Fig. 1b). Three female animals (6, 9, 16) were
heterozygous carriers of the pathological mutation and
showed two bands on the agarose gel (Fig. 1b).

Congenital hypotrichosis with anodontia

311

Figure 4. Histologic section of the muzzle. (a) Bull no. 17. Eccrine nasolabial glands are absent. (b) Control animal of the same age and breed
with normal nasolabial glands and glandular ducts. Scale bar = 400 m (e: epidermis, gl: eccrine nasolabial glands, gd: glandular duct).

DISCUSSION
The segregation pattern of HAD in the ascertained
cattle family showed an X-linked recessive inheritance.
Common ancestors could be found only in the maternal path. The affected calves could be traced back to
the same dam. The RTPCR genotyping for the causative
ED1 mutation documented the maternal granddam
origin of the mutated ED1 allele. The dam (9) of the
affected bulls was heterozygous, as was the maternal halfsister (6), we therefore conclude that the granddam (1)
carried this mutant ED1 allele as well. All other reports
on cattle with a similar phenotypic form of oligodontia
and hypotrichosis also appear to indicate an X-linked
inheritance.3,4
The bovine HAD phenotype described here appears
to represent a suitable animal model for the comparable ED1 phenotype in man. Bovine HAD shows not
only a very close clinical resemblance to human ED1,
but also similar pathological changes, the same X-linked
recessive inheritance, and, most strikingly, a causative
mutation in the ED1 gene. Similar arguments apply for
the Tabby mouse mutant. In the Tabby mouse strains,
there are no dermal ridges and sweat glands on the
pads.20 The missing or underdeveloped surface on

the muzzle and the missing eccrine nasolabial glands in

the calves described here may be comparable with the
Tabby phenotype.
Forms of hypotrichosis other than HAD in cattle
are phenotypically less similar to our cases. At birth
semihairless calves exhibit short, fine and curly hair.
At later stages the sparse hair coat is coarse and thicker.
The inheritance follows a simple recessive autosomal
transmission.21 Streaked hairlessness is inherited as
a dominant, X-linked trait and is a lethal defect in
hemizygous males.22 Affected females were found to
lack hair in vertical streaks over the hip joints and
sometimes on the sides of the body and the legs. It was
concluded from the sex ratio of calves born in a segregating family that streaked hairlessness is lethal for
male embryos when the defective allele is carried on
the X-chromosome. These types of hypotrichosis are
rather distinct forms, because they are not associated
with oligodontia, nor does the mode of inheritance
conform to an X-linked recessive trait becoming visible
in males.
In conclusion, the causative ED1 gene for the HAD
phenotype described here seems to have pleiotropic
effects on hair follicles, eccrine nasolabial glands,
apocrine sweat glands, individually expressed contours
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C. Drgemller et al.

of the muzzle and on the development of incisor and

premolar/molar teeth. A molecular genetic test for the
pathological mutation allows the unequivocal classification of animals with congenital HAD and the identification of heterozygous carriers and their exclusion
from further breeding.

ACKNOWLEDGEMENTS
We wish to thank Nicole Voges, Andreas Schridde and
Holger Lnnecker for their expert animal care and
Judith McAlister-Hermann for helpful comments on
the manuscript. This study was supported by grants from
the German Research Council DFG (Le 1032/4-1+2).

10.

11.

12.

13.

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Rsum Une hypotrichose, une absence presque complte de dents et labsence totale de glandes nasolabiales
eccrines a t observe parmi la progniture dune vache German Holstein saine. Des anomalies congnitales
semblables sont connues chez lhomme et chez la souris sous le nom de dysplasie ectodermique anhidrotique lie
lX (ED1), provoquant la formation anormale de poils, de dents et de glandes sudoripares. Le pedigree de 4
mles prsentant la maladie dans cette famille a montr que le phnotype est monognique rcessif li lX.
Nous avons utilis un test de RT-PCR pour tudier lhrdit dune dltion gnomique du gne bovin ED1 qui
pourrait tre en cause dans la maladie. Ce test a permis la mise en vidence de porteurs de la maladie, qui taient
phnotypiquement normaux. Cette maladie chez la vache peut servir de modle animal de lED1, car les observations cliniques, pathologiques et gntiques sont semblables celles dcrites chez lhomme.
2002 Blackwell Science Ltd, Veterinary Dermatology, 13, 307 313

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313

Resumen En los descendientes de una vaca normal de raza Holstein Alemana, blanca y negra, se observ
hipotricosis, una ausencia casi total de dientes y una ausencia total de glndulas ecrinas nasolabiales. Se conocen
anomalas similares en humanos y ratones como displasia ectodrmica anhidrtica ligada a X (ED1), y que
llevan a una anomala en la formacin del pelos, los dientes y las glndulas sudorparas. El pedigree de las cuatro
terneras macho afectadas en la familia de la vaca investigada indic que el fenotipo descrito se hereda como un
rasgo monognico recesivo ligado a X. Aplicamos una prueba diagnstica RT-PCR para estudiar la heredabilidad
de una gran supresin genmica en el gen bovino ED1, previamente descrita. Esta prueba permiti una clasificacin
inequvoca de los portadores de la enfermedad que eran fenotpicamente normales. Esta alteracin bovina puede
servir como modelo animal de la ED1 humana, ya que los hallazgos clnicos, patolgicos y genticos de la ED1
humana muestran similitudes notables con el fenotipo descrito en bovinos.
Zusammenfassung Hypotrichose, das Fehlen fast aller Zhne und die vllige Abwesenheit von ekkrinen
Nasolabialdrsen wurde bei dem Nachwuchs einer normalen deutschen Hosteinerkuh gesehen. hnliche
kongenitale Anomalien sind bei Menschen und Musen als X-gebundene anhidrotische ektodermale Dysplasie
(ED1) bekannt und fhren zu fehlerhafter Bildung von Haar, Zhnen und Schweissdrsen. Der Stammbaum
der vier betroffenen Stierklber in der untersuchten Kuhfamilie deutete darauf hin, dass der beschriebene
Phnotyp als ein monogenes, X-gebundenes Merkmal vererbt wird. Wir verwendeten einen diagnostischen
RT-PCR Assay, um die Vererbung einer schon verffentlichten kausalen Genomdeletion im bovinen ED1 Gen
zu untersuchen. Dieser Test erlaubte die unzweifelhafte Klassifizierung von Krankheitstrgern, die phnotypisch
normal waren. Da die klinischen, pathologischen und genetischen Befunde bei humaner ED1 auffallende
hnlichkeiten mit dem beschriebenen Phnotyp bei Khen zeigt, kann diese bovine Erkrankung mglicherweise
als Tiermodell fr humane ED1 dienen.

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