Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
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Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. / Harms, Frederike L; Nampoothiri, Sheela; Anazi, Shams; Yesodharan, Dhanya; Alawi, Malik; Kutsche, Kerstin; Alkuraya, Fowzan S.
in: AM J MED GENET A, Jahrgang 176, Nr. 2, 02.2018, S. 477-482.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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T1 - Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
AU - Harms, Frederike L
AU - Nampoothiri, Sheela
AU - Anazi, Shams
AU - Yesodharan, Dhanya
AU - Alawi, Malik
AU - Kutsche, Kerstin
AU - Alkuraya, Fowzan S
N1 - © 2017 Wiley Periodicals, Inc.
PY - 2018/2
Y1 - 2018/2
N2 - Elsahy-Waters syndrome (EWS), also known as branchial-skeletal-genital syndrome, is a distinct dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual disability, and hypospadias. We have recently published a homozygous potential loss of function variant in CDH11 in a boy with a striking resemblance to EWS. More recently, another homozygous truncating variant in CDH11 was reported in two siblings with suspected EWS. Here, we describe in detail the clinical phenotype of the original CDH11-related patient with EWS as well as a previously unreported EWS-affected girl who was also found to have a novel homozygous truncating variant in CDH11, which confirms that EWS is caused by biallelic CDH11 loss of function mutations. Clinical features in the four CDH11 mutation-positive individuals confirm the established core phenotype of EWS. Additionally, we identify upper eyelid coloboma as a new, though infrequent clinical feature. The pathomechanism underlying EWS remains unclear, although the limited phenotypic data on the Cdh11-/- mouse suggest that this is a potentially helpful model to explore the craniofacial and brain development in EWS-affected individuals.
AB - Elsahy-Waters syndrome (EWS), also known as branchial-skeletal-genital syndrome, is a distinct dysmorphology syndrome characterized by facial asymmetry, broad forehead, marked hypertelorism with proptosis, short and broad nose, midface hypoplasia, intellectual disability, and hypospadias. We have recently published a homozygous potential loss of function variant in CDH11 in a boy with a striking resemblance to EWS. More recently, another homozygous truncating variant in CDH11 was reported in two siblings with suspected EWS. Here, we describe in detail the clinical phenotype of the original CDH11-related patient with EWS as well as a previously unreported EWS-affected girl who was also found to have a novel homozygous truncating variant in CDH11, which confirms that EWS is caused by biallelic CDH11 loss of function mutations. Clinical features in the four CDH11 mutation-positive individuals confirm the established core phenotype of EWS. Additionally, we identify upper eyelid coloboma as a new, though infrequent clinical feature. The pathomechanism underlying EWS remains unclear, although the limited phenotypic data on the Cdh11-/- mouse suggest that this is a potentially helpful model to explore the craniofacial and brain development in EWS-affected individuals.
KW - Journal Article
U2 - 10.1002/ajmg.a.38568
DO - 10.1002/ajmg.a.38568
M3 - SCORING: Journal article
C2 - 29271567
VL - 176
SP - 477
EP - 482
JO - AM J MED GENET A
JF - AM J MED GENET A
SN - 1552-4825
IS - 2
ER -
