NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review

LIN Xue-Qin; QUAN Yu-Lin; HE Hai-Lan; PENG Jing

doi:10.7499/j.issn.1008-8830.2401047

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Chinese Journal of Contemporary Pediatrics ›› 2024, Vol. 26 ›› Issue (7) : 750-756. DOI: 10.7499/j.issn.1008-8830.2401047

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NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review

LIN Xue-Qin, QUAN Yu-Lin, HE Hai-Lan, PENG Jing

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Abstract

This article reports on the clinical and genetic characteristics of monozygotic twins with Marshall-Smith syndrome (MRSHSS) due to a mutation in the NFIX gene, along with a review of related literature. Both patients presented with global developmental delays, a prominent forehead, shallow eye sockets, and pectus excavatum. Genetic testing revealed a heterozygous splicing site mutation c.697+1G>A in both children, with parents showing wild-type at this locus. According to the guidelines of the American College of Medical Genetics and Genomics, this mutation is considered likely pathogenic and has not been previously reported in the literature. A review of the literature identified 32 MRSHSS patients with splicing/frameshift mutations. Accelerated bone maturation and moderate to severe global developmental delay/intellectual disability are the primary clinical manifestations of patients with MRSHSS. Genetic testing results are crucial for the diagnosis of this condition.

Key words

NFIX gene / Marshall-Smith syndrome / Global developmental delay/intellectual disability / Abnormal bone maturation / Child

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LIN Xue-Qin, QUAN Yu-Lin, HE Hai-Lan, PENG Jing. NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(7): 750-756 https://doi.org/10.7499/j.issn.1008-8830.2401047

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