1 - Serviço de Genética Médica, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, Portugal
2 - Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal
- EuroDysmorpho 2022 ( Comunicação Oral)
We report a 15 year-old girl, second child of non-consanguineous parents. At 27 weeks of gestation, mother underwent amniocentesis due to fetal microcephaly. Conventional cytogenetics identified an abnormal fetal karyotype: 47,XX,+r[2]/46,XX[79]. Fluorescence in situ hybridization (FISH) did not identify the marker-chromosome. She was born at 38 weeks of gestation with a weight of 2770g (9th percentile), a length of 47 cm (9th percentile) and a OFC of 31.5 cm (< 1st percentile, -2SD). At observation, she presented facial asymmetry, broad nasal bridge, large ear lobes, thin lips, microretrognathia, long halluces and hypertrichosis. Recent examination at our clinic describes a girl with microcephaly (-3SD), severe intellectual disability, hand stereotypies and mood swings. The patient has no language and presents limited movements and spasticity of the lower limbs. Other dysmorphic features now observed include: thick eyebrows, long eyelashes, long palpebral fissure, convergent strabismus, kyphoscoliosis She was also diagnosed with sensorineural hearing loss, celiac disease, recurrent infections, and sleep apnea. Chromosomal microarray (CMA) analysis was normal. Clinical exome identified a heterozygous variant of unknown significance in KMT2S [(NM_003482.3) - c.8314C>T (p.(Leu2772Phe)] gene which is associated with autosomal dominant Kabuki Syndrome. This variant was inherited from a healthy mother. Whole-genome sequencing is ongoing.
Palavras Chave: Clinical Exome, KMT2S, Kabuki Syndrome