9q31.2-q33.1CNV Type: Deletion
Largest CNV size: 7070000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion in this region was identified in a female with severe-to-profound mental retardation and autistic features. However, because the precise start and end points for the deletion were not provided, the exact size and gene content of this deletion cannot be given.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gamerdinger_08_MR_discovery_cases
Only daughter of healthy non-consanguineous parents presenting with mental retardation and autistic features
1
Mental retardation, autistic features, hypotonia, facial dysmorphisms, and growth retardation
22 yrs.
Female
7070000
1
0
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gamerdinger_08_MR_discovery_cases-case1
22 yrs.
F
Mental retardation + autistic features
Birth/neonatal history: consistent growth retardation with poor fetal movements detected by ultrasound; delivery at 41 weeks complicated by asphyxia and double knot of umbilical cord; Apgar scores 4/5/9; birth length (50th %ile), weight (<50th %ile), and head circumference (10th %ile) within normal range. Developmental milestones: significant retardation of motor abilities caused by general muscular hypotonia; passive sitting at 14 months, independent sitting at 2.5 years, free standing at 3 years, walking without help at 7.5 years (only single steps); no speech development; single sounds and shrilly cry at 39 months; active speech at 9 years limited to single sounds. Language and communication evaluation: limited speech that failed to improve with speech therapy. Motor and musculoskeletal evaluation: general muscular hypotonia, significant motor retardation; used wheelchair since 14 years of age. Behavioral/psychiatric evaluation: cried when touched starting with 2nd year of life; autistic features (stereotypic movements, continually pulled a ribbon through her mouth during presentation); restlessness; hyperactivity. Hearing: normal. Dysmorphic features: laterally accentuated eyebrows, heterochromia (blue iris on right eye, brown iris on left eye), synophris, broad nasal root, hypertelorism, severe teeth irregularities, small jaw, malposition of feet. Growth parameters: significant growth retardation; all growth parameters <3rd %ile at 4 years; adult height corresponds 50th %ile of normal 10.3-year-old girl. Family history: only daughter of healthy non-consanguineous parents; paternal half-sister developing according to age.
Severe-to-profound mental retardation
NA (approx. 106200000)
NA (approx. 113270000)
7070000
NCBI35
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gamerdinger_08_MR_discovery_cases-case1
FISH
De novo, parental chromosome
Simplex
Likely segregated
Est. gene content: ZNF462,RAD23B,KLF4,ACTL7B,ACTL7A,IKBKAP,FAM206A,CTNNAL1,TMEM245,FRRS1L,EPB41L4B,PTPN3,PALM2,PALM2-AKAP2,AKAP2,C9orf152,TXN,TXNDC8,SVEP1,MUSK,LPAR1,OR2K2,KIAA0368,ZNF483,PTGR1,DNAJC25-GNG10,DNAJC25,GNG10,C9orf84,UGCG,SUSD1,PTBP3,HSDL2,KIAA1958,C9orf80,SNX30,SLC46A2,ZNF883,ZFP37,SLC31A2,FKBP15,SLC31A1,CDC26,PRPF4,RNF183,WDR31,BSPRY,HDHD3,ALAD,POLE3,C9orf43
Controls
No Control Data Available
No Animal Model Data Available