Identification of a de novo PUF60 variant associated with craniofacial microsomia

Author:

Ogawa Takuya1ORCID,Xue Jingyi23,Guo Long24ORCID,Inoue‐Arai Maristela Sayuri1,Vendramini‐Pittoli Siulan5,Zechi‐Ceide Roseli Maria5,Candido‐Souza Rosana Maria5,Tonello Cristiano6,Brandão Michele Madeira6,Ozawa Terumi Okada7,Peixoto Adriano Porto7,Ruiz Daniela Maria Cury Ferreira8,Nakashima Tomoki9,Ikegawa Shiro2,Moriyama Keiji1,Kokitsu‐Nakata Nancy Mizue5ORCID

Affiliation:

1. Department of Maxillofacial Orthognathics, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University Tokyo Japan

2. Laboratory for Bone and Joint Diseases RIKEN Center for Integrative Medical Sciences Tokyo Japan

3. Department of Pharmacology, School of Basic Medical Sciences, Beijing Key Laboratory of Metabolic Disturbance Related Cardiovascular Disease Capital Medical University Beijing China

4. Department of Laboratory Animal Science, School of Basic Medical Sciences Xi'an Jiaotong University Xi'an China

5. Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of São Paulo Bauru São Paulo Brazil

6. Department of Craniofacial Surgery, Hospital for Rehabilitation of Craniofacial Anomalies University of São Paulo Bauru São Paulo Brazil

7. Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies University of São Paulo Bauru São Paulo Brazil

8. Department Speech Therapy, Hospital for Rehabilitation of Craniofacial Anomalies University of São Paulo Bauru São Paulo Brazil

9. Department of Cell Signaling, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University Tokyo Japan

Abstract

AbstractCraniofacial microsomia (CFM), also known as the oculo‐auriculo‐vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12‐month‐old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.

Publisher

Wiley

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