Dataset Information

Loeys-Dietz syndrome associated with a heterozygous mutation in TGFBR2 in a female infant: A case report.

ABSTRACT: Loeys-Dietz syndrome (LDS) is an unusual hereditary connective tissue disease with no clear standard clinical diagnosis. The present report describes a case of an infant diagnosed with LDS at the age of 2 months and 23 days. To the best of our knowledge, this case represents the youngest reported case of LDS in China. Whole exome sequencing revealed a heterozygous variation, c.1441(exon 6)G>A [p.E481k(p.Glu481Lys) (NM_001024847)], located at chr3:30715708 in the transforming growth factor ? receptor 2 gene. The patient underwent systematic rehabilitation and standard high-risk infant follow-up. Currently, the overall development of the patient continues to improve. The patient can walk with assistance, stand up on her feet unaided, exhibits improved optical line of sight and both eyes can move up and down, side to side (left and right) and track moving objects. The parents have been advised that a further echocardiogram should be performed as soon as possible and regular follow-up sessions with a cardiovascular specialist are ongoing. LDS diagnosis was confirmed in the patient based on collective findings of skeletal system changes, ocular hypertelorism, ocular exotropia, micrognathia and high-vaulted palate, in combination with a specific pathogenic gene mutation.

SUBMITTER: Zhu C

PROVIDER: S-EPMC7678639 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Loeys-Dietz syndrome associated with a heterozygous mutation in <i>TGFBR2</i> in a female infant: A case report.

Zhu Chun C Tong Meiling M Chi Xia X

Experimental and therapeutic medicine 20201104 1

Loeys-Dietz syndrome (LDS) is an unusual hereditary connective tissue disease with no clear standard clinical diagnosis. The present report describes a case of an infant diagnosed with LDS at the age of 2 months and 23 days. To the best of our knowledge, this case represents the youngest reported case of LDS in China. Whole exome sequencing revealed a heterozygous variation, c.1441(exon 6)G>A [p.E481k(p.Glu481Lys) (NM_001024847)], located at chr3:30715708 in the transforming growth factor β rece ...[more]

PMID: 33235621

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Project description:BACKGROUND:Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by arterial aneurysms, dissections and tortuosity, and skeletal, including craniofacial, manifestations. Mutations in five genes involved in the transforming growth factor beta (TGF-?) signaling pathway cause five types of LDS. Stickler syndrome is a genetically heterogeneous arthro-ophthalmopathy caused by defects in collagen, exhibiting a wide specter of manifestations in connective tissue. A rare case is reported that was diagnosed with all these three hereditary connective tissue disorders. CASE PRESENTATION:A 19 year-old, Norwegian male with a clinical diagnosis of Larsen syndrome and with healthy, non-consanguineous parents attended a reference center for rare connective tissue disorders. Findings at birth were hypotonia, joint hypermobility, hyperextended knees, adductovarus of the feet, cervical kyphosis, craniofacial abnormalities, and an umbilical hernia. From toddlerhood, he required a hearing aid due to combined conductive and sensorineural hearing loss. Eye examination revealed hyperopia, astigmatism, and exotropia. At 10 years of age, he underwent emergency surgery for rupture of an ascending aortic aneurysm. At 19 years of age, a diagnostic re-evaluation was prompted by the findings of more distal aortic dilation, tortuosity of precerebral arteries, and skeletal findings. High throughput sequencing of 34 genes for hereditary connective tissue disorders did not identify any mutation in FLNB, but did identify a de novo missense mutation in TGFBR2 and a nonsense mutation in COL2A1 that was also present in his unaffected father. The diagnosis was revised to LDS Type 2. The patient also fulfills the proposed criteria for Stickler syndrome with bifid uvula, hearing loss, and a known mutation in COL2A1. CONCLUSION:LDS should be considered in patients with a clinical diagnosis of Larsen syndrome, in particular in the presence of arterial aneurysms or tortuosity. Due to genetic heterogeneity and extensive overlap of clinical manifestations, genetic high throughput sequencing analysis is particularly useful for the differential diagnosis of hereditary connective tissue disorders.

Dataset Information

Loeys-Dietz syndrome associated with a heterozygous mutation in TGFBR2 in a female infant: A case report.

Publications

Loeys-Dietz syndrome associated with a heterozygous mutation in <i>TGFBR2</i> in a female infant: A case report.

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