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EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
Medicine (Baltimore). 2020 Oct 30; 99(44):e22816.M

Abstract

RATIONALE

Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature.

PATIENT CONCERNS

A 13-year-old Japanese boy had ectrodactyly in the right hand and left foot and syndactyly in the left and right foot, and tooth shape abnormalities.

DIAGNOSES

Peripheral blood samples were obtained, and mutation analysis was performed. A heterozygous G>A transition at cDNA position 956 of the TP63 gene was found. The patient was diagnosed with ELA (EEC/LM/ADULT) syndrome based on his clinical features and mutation analysis results.

INTERVENTIONS

The patient underwent surgery to correct the left foot malformation at 1 year of age and the right foot syndactyly at 11 years of age.

OUTCOMES

No complications were observed after the first and second operations. He can walk comfortably after them, and no additional interventions will be planned in him. We continued to follow up with him up to the present.

LESSONS

The concept of ELA syndrome, which is the original concept of combining 3 syndromes (EEC syndrome/LMS/ADULT syndrome) into a unique clinical entity, can help clinicians to better understand TP63-related syndromes and improve the differential diagnosis of these syndromes.

Authors+Show Affiliations

Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

33126320

Citation

Otsuki, Yuki, et al. "EEC-LM-ADULT Syndrome Caused By R319H Mutation in TP63 With Ectrodactyly, Syndactyly, and Teeth Anomaly: a Case Report." Medicine, vol. 99, no. 44, 2020, pp. e22816.
Otsuki Y, Ueda K, Nuri T, et al. EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report. Medicine (Baltimore). 2020;99(44):e22816.
Otsuki, Y., Ueda, K., Nuri, T., Satoh, C., Maekawa, R., & Yoshiura, K. I. (2020). EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report. Medicine, 99(44), e22816. https://doi.org/10.1097/MD.0000000000022816
Otsuki Y, et al. EEC-LM-ADULT Syndrome Caused By R319H Mutation in TP63 With Ectrodactyly, Syndactyly, and Teeth Anomaly: a Case Report. Medicine (Baltimore). 2020 Oct 30;99(44):e22816. PubMed PMID: 33126320.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report. AU - Otsuki,Yuki, AU - Ueda,Koichi, AU - Nuri,Takashi, AU - Satoh,Chisei, AU - Maekawa,Ryuta, AU - Yoshiura,Koh-Ichiro, PY - 2020/10/31/entrez PY - 2020/11/1/pubmed PY - 2020/11/11/medline SP - e22816 EP - e22816 JF - Medicine JO - Medicine (Baltimore) VL - 99 IS - 44 N2 - RATIONALE: Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H mutation in TP63 is reported, and the correlation between genotype and phenotype is discussed based on the current case and previous literature. PATIENT CONCERNS: A 13-year-old Japanese boy had ectrodactyly in the right hand and left foot and syndactyly in the left and right foot, and tooth shape abnormalities. DIAGNOSES: Peripheral blood samples were obtained, and mutation analysis was performed. A heterozygous G>A transition at cDNA position 956 of the TP63 gene was found. The patient was diagnosed with ELA (EEC/LM/ADULT) syndrome based on his clinical features and mutation analysis results. INTERVENTIONS: The patient underwent surgery to correct the left foot malformation at 1 year of age and the right foot syndactyly at 11 years of age. OUTCOMES: No complications were observed after the first and second operations. He can walk comfortably after them, and no additional interventions will be planned in him. We continued to follow up with him up to the present. LESSONS: The concept of ELA syndrome, which is the original concept of combining 3 syndromes (EEC syndrome/LMS/ADULT syndrome) into a unique clinical entity, can help clinicians to better understand TP63-related syndromes and improve the differential diagnosis of these syndromes. SN - 1536-5964 UR - https://wwww.unboundmedicine.com/medline/citation/33126320/EEC_LM_ADULT_syndrome_caused_by_R319H_mutation_in_TP63_with_ectrodactyly_syndactyly_and_teeth_anomaly:_A_case_report_ L2 - https://doi.org/10.1097/MD.0000000000022816 DB - PRIME DP - Unbound Medicine ER -