Neurofibromatosis type 1 with CDK13-related disorder：a case report and literature

doi:10.3969/j.issn.1673-8640.2025.02.009

Abstract

Abstract:

Objective To investigate the clinical phenotypes and genetic characteristics of neurofibromatosis type 1（NF1） gene and cell cycle-dependent protein kinase 13（CDK13） gene. Methods The clinical data of a patient who was diagnosed with NF1 combined with CDK13-related disorder were collected retrospectively. Whole-exome sequencing was performed for the child and parents. The suspected variation was verified by Sanger sequencing and analyzed by connoisseur. Using "CDK13 gene and NF1 gene" as the keywords，relevant literatures were searched at CNKI，Wanfang Data and PubMed from the establishment of databases to February 2024. The clinical and genetic characteristics of this case of NF1 combined with CDK13-related disorder were summarized. Results The main clinical manifestations included café-au-lait macules，short stature，distinctive facial appearance（upslanting palpebral fissures，ocular hypertelorism，epicanthus and broad nasal bridge） and mental retardation. Whole-exome sequencing showed a heterogeneous variation CDK13 c.484dupG，p.Ala162Glyfs*108，NF1 c.3610C>G，p.Arg1204Gly. Sanger sequencing showed that the mother of the child carried a heterozygous mutation of NF1 gene，but did not carry a frameshit mutation of CDK13 gene. No literature with NF1 and CDK13-related disorder were found. A total of 11 papers were collected. The clinical manifestations of 97 patients were mental retardation or developmental delay，distinctive facial appearance and congenital heart defect. The main pathogenic variations were missense mutations. Conclusions NF1 gene mutation is the cause of NF1. Coexistence of double genetic diseases should be considered when NF1 patients with distinctive facial appearance and the existing phenotype or symptoms cannot be explained.

Key words: Neurofibromatosis type 1 gene, Cell cycle-dependent protein kinase 13 gene, Whole-exome sequencing, Mental retardation, Developmental delay

CLC Number:

R446.1

LU Yaya, WANG Yaqiong, PENG Huifang, LOU Dan. Neurofibromatosis type 1 with CDK13-related disorder：a case report and literature[J]. Laboratory Medicine, 2025, 40(2): 154-159.

Figures/Tables 6

References 21

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临床特征	已报道病例/[%（例/例）]	本例病例
智力障碍	80.9（76/94）	+
特殊面容	98.4（62/63）	+
异常脑结构	43.5（27/62）	+
心脏结构异常	42.4（39/92）	+
肾脏异常	42.4（14/33）	+

临床特征	已报道病例/[%（例/例）]	本例病例
智力障碍	80.9（76/94）	+
特殊面容	98.4（62/63）	+
异常脑结构	43.5（27/62）	+
心脏结构异常	42.4（39/92）	+
肾脏异常	42.4（14/33）	+