Details

Autor(en) / Beteiligte

• Venkatapuram, Vijaya Sree
• Aggarwal, Shagun
• Kulkarni, Aditya Deepak
• Vineeth, Venugopal Satidevi
• Bhikaji Dalal, Ashwin
• Bhat, Venkatraman
• Kiran, Lavanya
• Patil, Siddaramappa Jagdish

Titel

Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants

Ist Teil von

• American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1287-1292

Ort / Verlag

Hoboken, USA: John Wiley & Sons, Inc

Erscheinungsjahr

2022

Quelle

Wiley Online Library - AutoHoldings Journals

Beschreibungen/Notizen

• Biallelic IMPAD1 pathogenic variants leads to deficiency of GPAPP (Golgi 3‐prime phosphoadenosine 5‐prime phosphate 3‐prime phosphatase) protein and clinically causes chondrodysplasia, which is characterized by short stature with short limbs, craniofacial malformations, cleft palate, hand and foot anomalies, and various radiographic skeletal manifestations. Here we describe prenatal presentation of GPAPP deficiency caused by novel biallelic pathogenic variants, 2 base pair duplication in exon 2 of IMAPD1 gene in a patient of Asian‐Indian origin. Further we report on diagnostic clues of prenatal presentation of GPAPP deficiency through ultrasonography, fetal MRI, and postmortem findings. We also provide evidence of pathophysiology of underlying GPAPP deficiency in the form of disorganization and dysplastic chondrocytes and reduced sulfation of glycoproteins through histopathology of cartilage similar to that described in mice IMPAD1 homozygous mutant model.