A novel mutation at ANTXR1 in an indian GAPO patient

Publication date: Available online 4 August 2017
Source:Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Author(s): Esita Chattopadhyay, Sandip Ghose, Anindita Ray, Nishat Anjum, Anjana Mazumdar, Bidyut Roy
PurposeGAPO (OMIM ID 230740) is one of the rarest autosomal recessive syndromes, characterised by eponymic description of Growth retardation, Alopecia, Pseudo anodontia and Optic atrophy. It is characterized by many phenotypes such as wide anterior fontanel in head, frontal bossing in face, depressed nasal bridge etc. along with above mentioned four classical phenotypes. Recent reports identified nonsense, missense and splicing mutations at different exons of ANTXR1 to be responsible for GAPO syndrome in patients from different ethnic population. Here, we are reporting mutation at ANTXR1in a GAPO patient from India.Patients, Methods and ResultsWe describe an inherited mutation at ANTXR1 in a GAPO patient (6-year-old boy) from India. Genomic DNA from GAPO patient and other family members were screened for previously reported mutations at ANTXR1 by sequencing. A novel homozygous and heterozygous mutation in exon-3 of ANTXR1 (c.265G>A, p.Gly89Arg) has been identified in patient and other members of the family, respectively. But no mutated allele was identified in genomic DNA from unrelated healthy individuals. Bioinformatic analysis by different tools predicted deleterious, damaging or aberrant splicing effect of mutation on the protein.ConclusionFunctional inefficiency of ANTXR1due to mutation might have led to GAPO syndrome.



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