PMID: 40612488

Gene: MECP2

HGNC: 6990

Case: 13.9-year-old female patient

DiseaseAssertion: Rett, (Z-RTT/PSV: Zappella Rett syndrome/preserved speech variant)

FamilyInfo: Tics were also present in the mother and grandmother, de novo MECP2 variant was detected in the proband, a maternally inherited VoUS class 3 in GABBR1 (p. F692S), was identified in the proband, and segregated in the mother and grandmother

ParentalTest: FullPhase

CasePresentingHPOs: HP:0012760, HP:0000817, HP:5200030, HP:0012171, HP:0100035, HP:0100034, HP:0000739, HP:0100716, HP:0030051, HP:0002136, HP:0001276, HP:0002342, HP:0007010, HP:0000717

CaseHPOFreeRext: the case exhibited social withdrawal, difficulties in relationships, limited verbal communication, midline pinching and hand clapping, skin picking, progressive hypertonia with rigidity of the limbs, impaired her fine motor abilities.

CaseNOTHPOs: NR

CaseNOTHPOFreeText: NR

CasePreviousTesting: Whole Genome Array-CGH yielded normal results

PreviouslyPublished: Not previously published

GenotypingMethod: Exome Genome

Variant: NP_004983.1: c.397C>T; p.Arg133Cys

HGVS: NM_001110792.2:c.433C>T

ClinVarID: 11809

CAID: CA211250

gnomAD: NR

MultipleGeneVariants:

DiseaseEntity: Rett

AlleleOrigin: Germline

Variant: NM_001470.4:c.2075T>C

Mutation: Missense

Zygosity: Heterozygous

CAID: CA3689865

gnomAD: 0.000024 (GnomAD v4.1.0)

PreviouslyPublished: No