CASE REPORT article
Front. Pediatr.
Sec. Neonatology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1652826
3-M syndrome with novel CUL7 variants in a Chinese patient: a case report
Provisionally accepted
- 1Shengli Oilfield Central Hospital, Dongying, China
- 2Shanghai Children's Hospital, Shanghai, China
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Background: 3M syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in cullin 7 (CUL7), obscurin-like 1 (OBSL1), and coiled-coil domain-containing protein 8 (CCDC8) genes, characterized by pre-and postnatal growth retardation, short stature, dysmorphic facial features, and skeletal anomalies, with normal intelligence. Case presentation: In this study, we report a 6-year-old female patient from China diagnosed with 3M syndrome. The patient presented with typical clinical features of growth retardation and short stature, with normal intelligence. The dysmorphic facial features included relative macrocephaly, a protruding forehead, a triangular face, a pointed chin, a flat nasal bridge, full lips, a long philtrum, and a broad lower jaw. Skeletal survey was normal except for clinodactyly of the fifth fingers in both hands. Growth hormone (GH) deficiency was excluded by normal serum hormone levels and the GH stimulation test (GHST) results. Whole-exome sequencing (WES) identified two heterozygous variants in CUL7, NM_014780.5: c.1639_1640del (p.Leu547Alafs*6) and NM_014780.5: c.4505T>C (p.Ile1502Thr). Parental Sanger sequencing confirmed these as novel compound heterozygous variants, with one variant inherited from each parent. Neither variant has been previously reported. The patient has been treated with recombinant human IGF-1 (rhIGF-1) for two years since 4-year-old, and has achieved a growth velocity of around 6-7 cm per year. Conclusions: We describe a Chinese patient with 3M syndrome caused by novel biallelic pathogenic variants in CUL7 from a non-consanguineous family, expanding the genetic spectrum of CUL7 in the Chinese population.
Keywords: 3M syndrome, CUL7, short stature, Dysmorphic facial features, Skeletal anomalies
Received: 24 Jun 2025; Accepted: 01 Oct 2025.
Copyright: © 2025 Liu, Liu, Suo, Han, Wang and Ding. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Yizhong Wang, wangyz@shchildren.com.cn
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