Subtelomeric investigation in individuals with microform of HPE (2014)
- Authors:
- Autor USP: COSTA, ANTONIO RICHIERI DA - HRAC
- Unidade: HRAC
- Subjects: HOLOPROSENCEFALIA; FISSURA LÁBIOPALATINA
- Language: Inglês
- Abstract: Holoprosencephaly (HPE) is a malformation sequence where the cerebral hemispheres fail to separate into distinct left and right haves. Three levels of increasing severity are described in HPE: lobar, semi-lobar and alobar. Another milder subtype of HPE called the middle interhemispheric variant (MIHF) or syntelencephaly, has been recognized. A new phenotype was first delineated in a series of Brazilian patients, the so-called holoprosencephaly-like (HPE-L) phenotype. The etiologies and the variable clinical spectra of HPE and HPE-L, also called HPE minor form or microform, seem to be related and extremely heterogeneous. Data about frequencies of classic HPE are well known. It is considered one of the most common human malformation, with an estimated prevalence of at least 1/16,000 live births and in 1/250 conceptuses, and it is usually classified according to type of CNS involvement or facial anomalies observed. On the other hand, similar statistics concerning HPE-L and/or microforms are unknown, but certainly it represents a challenge in several areas, such as clinical findings, differential diagnosis, prognosis, and genetic counseling. HPE-L can be seen as a condition important to the understanding of many of the mechanisms involved in normal and abnormal craniofacial development. Attention should be given to newborn babies with isolated large cleft lip/palate where the definitive diagnosis only will be possible with the phenotypic evolution. It is estimated that the cause of HPE is due to cytogenetic anomalies in 30-50% of indivuduals, to their environmental causes and unknown genetic alterations in 10-15%, and to mutations in HPE genes in 5-10%.(continua)(continuação)The present work was based on the observation of previous data showing subtelomeric aberrations in HPE individuals. We selected individuals presenting the microform of HPE with normal MRI and no developmental delay. These individuals had facial characteristics such as hypotelorism, single central incisor, flat nose, and cleft lip/palate. We performed MLPA screening based on the P036 kit on 64 DNA samples. No subtelomeric aberrations was found in the samples analyzed. Even considering that the sample is small, it seems that the subtelomeric aberration is not a common event in the microform of HPE
- Imprenta:
- Conference titles: The American Society of Human Genetics Annual Meeting
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ABNT
BICUDO, Lucilene Arilho Ribeiro et al. Subtelomeric investigation in individuals with microform of HPE. . San Diego: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. . Acesso em: 09 jan. 2026. , 2014 -
APA
Bicudo, L. A. R., Tragante do Ó, V., Gamba, B. F., & Richieri-Costa, A. (2014). Subtelomeric investigation in individuals with microform of HPE. San Diego: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. -
NLM
Bicudo LAR, Tragante do Ó V, Gamba BF, Richieri-Costa A. Subtelomeric investigation in individuals with microform of HPE. 2014 ;[citado 2026 jan. 09 ] -
Vancouver
Bicudo LAR, Tragante do Ó V, Gamba BF, Richieri-Costa A. Subtelomeric investigation in individuals with microform of HPE. 2014 ;[citado 2026 jan. 09 ] - Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
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