PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report

TL;DR

An 11-year-old boy with a PPP1R12A gene mutation showed congenital jejunal atresia and short stature without typical genitourinary or neurodevelopmental issues.

Contribution

This case expands the known phenotypic spectrum of PPP1R12A mutations by highlighting isolated growth hormone deficiency and jejunal atresia.

Findings

The patient has a de novo PPP1R12A mutation associated with jejunal atresia and growth hormone deficiency.

He lacks genitourinary anomalies typically seen in PPP1R12A-related syndrome.

The patient shows normal neurodevelopment and responds well to somatropin therapy.

Abstract

We report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation. His medical history is remarkable for congenital jejunal atresia diagnosed prenatally and repaired surgically shortly after birth. Notably, he lacks genitourinary anomalies, which are frequently described in individuals with PPP1R12A‐related urogenital and brain malformation syndrome (UBMS). An endocrine evaluation revealed growth hormone deficiency with an ectopic posterior pituitary gland and an interrupted pituitary stalk. Despite these findings, his neurodevelopment is advanced compared to peers without any concern for intellectual disability. His most recent gastrointestinal and nutritional workup was normal, and he is demonstrating excellent linear growth and response to somatropin therapy. This case broadens the phenotypic spectrum associated with PPP1R12A mutations by highlighting isolated growth hormone deficiency and jejunal atresia in the absence of genitourinary and neurodevelopmental anomalies. We emphasize the importance of multidisciplinary monitoring and an early endocrine referral in patients with PPP1R12A variants presenting with short stature.

Figures