Neu-Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review

Ravi Kapoor; Seema Thakur; Aakar Kapoor; Sunita Kapoor; Apurva Kalra; Aakriti Kapoor

doi:10.1055/s-0041-1726038

Neu-Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review

J Pediatr Genet. 2021 Jun 1;12(3):233-236. doi: 10.1055/s-0041-1726038. eCollection 2023 Sep.

Authors

Ravi Kapoor¹, Seema Thakur², Aakar Kapoor¹, Sunita Kapoor¹, Apurva Kalra^{1

2}, Aakriti Kapoor^{1

2}

Affiliations

¹ City X-ray & Scan Clinic Pvt. Ltd., Tilak Nagar, New Delhi, India.
² Department of Genetic and Fetal Diagnosis, Fortis Hospital, New Delhi, India.

Abstract

Neu-Laxova's syndrome (NLS) is a rare group of congenital malformations comprising intrauterine growth retardation (IUGR), central nervous system malformations, microcephaly, facial anomalies, ichthyosis, generalized edema, limb abnormalities, polyhydramnios, and perinatal death. We hereby report a fetus at 25 weeks' gestation with IUGR, facial and limb anomalies, and smooth brain detected on antenatal ultrasound and magnetic resonance imaging of fetus and confirmed by autopsy. Next-generation sequencing analysis identified a novel homozygous missense mutation in PHGDH gene. Only 35 cases of NLS with genetic etiology have been reported. This is the first case report of mutation in PHGDH from India.

Keywords: Neu–Laxova's syndrome; PHGDH gene; limb anomalies; serine biosynthesis defect.