TY - JOUR
T1 - GAPO syndrome in seven new patients
T2 - Identification of five novel ANTXR1 mutations including the first large intragenic deletion
AU - Abdel-Hamid, Mohamed S.
AU - Ismail, Samira
AU - Zaki, Maha S.
AU - Abdel-Salam, Ghada M.H.
AU - Otaify, Ghada A.
AU - Issa, Mahmoud Y.
AU - Abdel-Kader, Mohamed
AU - Girgis, Marian
AU - Aboul-Ezz, Eman
AU - Mazen, Inas
AU - Aglan, Mona S.
AU - Temtamy, Samia A.
N1 - Publisher Copyright:
© 2018 Wiley Periodicals, Inc.
PY - 2019/2
Y1 - 2019/2
N2 - GAPO syndrome is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy. It is caused by biallelic mutations in the ANTXR1 gene. Herein, we describe the clinical and molecular findings of seven new patients with GAPO syndrome. Our patients presented with the characteristic clinical features of the syndrome except for one patient who did not display total alopecia till the age of two years. Strikingly, optic atrophy and glaucoma were observed in all patients and one patient showed keratopathy in addition. Moreover, craniosynstosis was an unusual associated finding in one patient. Mutational analysis of ANTXR1 gene identified five novel homozygous mutations including two frameshift, two splice site and a large intragenic deletion of exon 3. Our results reinforce the clinical characteristics of the syndrome, expand the mutational spectrum and provide more insights into the role of the ANTXR1 protein in the regulation of extracellular matrix.
AB - GAPO syndrome is a very rare disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy. It is caused by biallelic mutations in the ANTXR1 gene. Herein, we describe the clinical and molecular findings of seven new patients with GAPO syndrome. Our patients presented with the characteristic clinical features of the syndrome except for one patient who did not display total alopecia till the age of two years. Strikingly, optic atrophy and glaucoma were observed in all patients and one patient showed keratopathy in addition. Moreover, craniosynstosis was an unusual associated finding in one patient. Mutational analysis of ANTXR1 gene identified five novel homozygous mutations including two frameshift, two splice site and a large intragenic deletion of exon 3. Our results reinforce the clinical characteristics of the syndrome, expand the mutational spectrum and provide more insights into the role of the ANTXR1 protein in the regulation of extracellular matrix.
KW - ANTXR1 gene
KW - Egyptian patients
KW - GAPO syndrome
KW - large intragenic deletion
KW - novel mutations
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U2 - 10.1002/ajmg.a.61021
DO - 10.1002/ajmg.a.61021
M3 - Article
C2 - 30575274
AN - SCOPUS:85058950536
SN - 1552-4825
VL - 179
SP - 237
EP - 242
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 2
ER -