| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
0 YR |
| Age at Diagnosis(If not a control) |
4 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A DE NOVO HETEROZYGOUS AUTOSOMAL DOMINANT PATHOGENIC VARIANT (C.5000G>C) IN THE CACNA1A GENE (NM_001127221.1) RESULTING IN A MISSENSE MUTATION (P.ARG1667PRO); ALIGNED TO HUMAN GENOME BUILD GRCH37; NEXT GENERATION SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A HETEROZYGOUS AUTOSOMAL RECESSIVE PATHOGENIC VARIANT (C.1733DEL) IN THE MANBA GENE (NM_005908.3) RESULTING IN A FRAMESHIFT MUTATION (P.ASN578ILEFS*47) |
| Zygosity: |
Heterozygous |
| Other variants: |
NEXT GENERATION SEQUENCING ANALYSIS OF GENOMIC DNA ALSO REVEALED A HETEROZYGOUS AUTOSOMAL RECESSIVE VARIANT [C.987-15C>G (P.?)] OF UNKNOWN SIGNIFICANCE IN THE IQCB1 GENE (NM_001023570.2), A HETEROZYGOUS AUTOSOMAL RECESSIVE VARIANT [C.1325T>G (P.VAL442GLY)] OF UNKNOWN SIGNIFICANCE IN THE KIAA0226 GENE (NM_014687.2) AND A HETEROZYGOUS AUTOSOMAL RECESSIVE VARIANT [C.844G>A (P.GLY282SER)] OF UNKNOWN SIGNIFICANCE IN THE FA2H GENE (NM_024306.4) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
4 YEARS OLD |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
Strabismus
Microcephaly
|
| Neurological Symptoms |
| |
Corpus callosum abnormalities
Ataxia
Hypotonia
|
| Additional Information: |
THINNING OF THE CORPUS COLLOSUM; SMALL CEREBELLUM, BRAIN STEM, PONS AND ENLARGEMENT OF THE EXTRA AXIAL SUBARACHNOID SPACES |
| Optical and Audiological Symptoms |
| |
Nystagmus
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI - PONTOCEREBELLAR HYPOPLASIA, ATROPHY OF THE CEREBELLUM; ABNORMAL MYELINATION IN THE CEREBELLUM, WITH GLIOTIC WHITE MATTER; ATROPHY OF THE PONS; DEFICIT OF NAA IS DETECTED IN THE PONS AND SUPERIOR CEREBELLAR VERMIS |
| Musculoskeletal and Developmental Testing: |
EMG - NORMAL |
| Treatments and Assistive Devices |
| |
Wheelchair or ambulation devices
glasses
|
| Medications |
| |
ACETAZOLAMIDE; GABAPENTIN |
| Family History |
| |
MOTHER, FATHER, AND SIBLING DO NOT CARRY THE DE NOVO MUTATION IN CACNA1A GENE |
| Remarks |
See "Phenotypic Data" Tab; unaffected mother is GM28365 (lymph); unaffected father is GM28366 (lymph). |