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Human Genetics

, Volume 136, Issue 8, pp 1009–1011 | Cite as

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

  • Jing Zhang
  • Tomasz Gambin
  • Bo Yuan
  • Przemyslaw Szafranski
  • Jill A. Rosenfeld
  • Mohammed Al Balwi
  • Abdulrahman Alswaid
  • Lihadh Al-Gazali
  • Aisha M. Al Shamsi
  • Makanko Komara
  • Bassam R. Ali
  • Elizabeth Roeder
  • Laura McAuley
  • Daniel S. Roy
  • David K. Manchester
  • Pilar Magoulas
  • Lauren E. King
  • Vickie Hannig
  • Dominique Bonneau
  • Anne-Sophie Denommé-Pichon
  • Majida Charif
  • Thomas Besnard
  • Stéphane Bézieau
  • Benjamin Cogné
  • Joris Andrieux
  • Wenmiao Zhu
  • Weimin He
  • Francesco Vetrini
  • Patricia A. Ward
  • Sau Wai Cheung
  • Weimin Bi
  • Christine M. Eng
  • James R. Lupski
  • Yaping Yang
  • Ankita Patel
  • Seema R. Lalani
  • Fan XiaEmail author
  • Paweł StankiewiczEmail author
Erratum

Erratum to: Hum Genet (2017) 136:377–386 DOI 10.1007/s00439-017-1763-1

In original publication, the last row of Table 1 was incorrect. The correct Table 1 is given below:
Table 1

Summary of clinical presentations, and CMA and molecular findings in nine individuals with TRIP12 mutations

 

Subject 1

Subject 2

Subject 3

Subject 4

Subject 5

Subject 6

Subject 7

Subject 8

Subject 9

Summary from this study

Summary from Bramswig et al.

Gender

Male

Male

Male

Female

Female

Male

Male

Female

Male

6 males, 3 females

7 males, 4 females

Age at examination (years)

15

7

15

4

1.8

4

10

12.5

7

1.8–15

5.7–26.3

TRIP12 variant (NM_004238)

Deletion of 9 exons (30–38)

Deletion of 17 exons (25–41)

Deletion of 4 exons (2–5)

Deletion of TRIP12 and adjacent 7 genes

Deletion of TRIP12 and 3 adjacent genes

Frameshift c.3446_3447delCA (p.S1149*X)

Frameshift c.2979dupA (p.G994Rfs*5)

Missense c.2282C>T (p.A761V)

Splicing c.3743+1G>A

5 CNVs (microdeletions)

3 SNVs/indels (2 truncating, 1 missense)

1 translocation

10 SNVs/indels (5 truncating, 5 missense)

Genomic coordinates (min/max, hg19)

chr2:230,634,390/230,636,077–230,654,539/230,655,748

chr2: 230,631,958/230,632,049–230,660,565/230,661,210

chr2:230, 230,679,862/698,794–230,781,114/230,801,002

chr2:230,489,478/230,513,445–231,457,431/231,508,839

chr2:229,076,749/229,152,599–230,801,061/230,811,273

Chr2: 230,661,450

Chr2: 230,666,969

Chr2: 230,672,494

Chr2: 230,659,894

  

Ethnicity

Mexican

NA

NA

Caucasian

NA

Saudi Arabia

United Arab Emirates (second cousins parents)

North European/Caucasian

Caucasian

  

Inheritance

De novo

Unknown

Unknown

De novo

De novo

De novo

De novo

De novo

De novo

7 de novo, 2 parents NA

9 de novo, 2 parents NA

Maternal age at birth (years)

45

NA

NA

NA

NA

25

25

26

29

25–45

22–34

Paternal age at birth (years)

47

NA

NA

NA

NA

35

27

34

48

27–48

25–41

DD/ID

+

+

+

+

+

+

+

+

+

9/9

11/11

Speech delay

+

+

ND

+

+

+.

+

+

+

8/8

10/11

1 ND

Autistic behaviors

+ Poor social interaction

ND

+ Stereotypic behaviors

+

+

+

+

6/8

8/11

Other behavioral anomalies

 

Hyper anxiety. Untypical behaviors

ND

 

Repetitive, aggressive behaviors/sensory issues

Hyperactive and destructive behavior

ND

Extremely impulsive and aggressive behaviors.

6/7

8/11

First words (months)

36

60

ND

24

ND

ND

ND

24

42

  

Verbal ability

Fluent speech

<100 words at 7 years

ND

30 words

5–6 words

No words

Single words

Phrase speech

Few phrase speech

1/8 fluent speech

6/8 phrase or single words

1/8 no words

6/11 fluent speech

5/11 phrase or single words

Motor delay

+

ND

+

+

+

+

+

+

7/8

7/11

Walking independently (months)

15

ND

ND

20

ND

ND

22

23

29

15–29

13–23

Seizures

ND

+

1/8

3/11

Microcephaly/OFC (cm) (percentile)

+

52.2 (2–10%)

ND

ND

+

49 (25%)

ND

2/6

0/11

1 ND

Obesity/weight (kg, percentile)

+

86 kg (morbid obesity)

23.3 kg (BMI 91%)

ND

+

65%

ND

+

97%

+

90%

50–75%

4/7

2/11

Height (cm)

174 (75–90%)

113.5 (6%)

ND

103 (50%)

89 (46%)

ND

ND

ND

123 (75%)

Variable

Variable

Dysmorphic features

 Head shape

Brachycephaly, dolichocephaly

ND

Sloping forehead

2/8

ND

 Narrow palpebral fissures

+

ND

+

+

+

ND

4/7

ND

 Downturned mouth corners

+

ND

+

+

+

4/8

ND

 Wide month

+

ND

+

+

3/8

3/8

 Hypertelorism

+

ND

1/8

1/8

 Epicanthic folds

ND

+

+

+

3/8

1/8

 Depressed nasal bridge

ND

− (high nasal bridge)

0/8

1/8

 Short nose

− (long nose)

ND

0/8

2/8

 Anteverted nares

ND

+

1/8

1/8

 Low hanging columella

+

ND

1/8

3/8

 Long philtrum

ND

− (short philtrum)

0/8

2/8

 Smooth philtrum

ND

0/8

2/8

 Thin upper lip vermilion

− (full lips)

ND

+

1/8

2/8

 Exaggerated Cupid’s bow

ND

0/8

4/8

 Pointed chin

ND

+

+

2/8

ND

 Large ear lobe

+

ND

+

+

3/8

3/8

 Low set ears

ND

+

1/8

2/8

 Hand anomalies

Spindle shaped fingers

  

 Hearing loss (HL)

+

Unilateal HL

1/9

0/11

 Brain anomalies

ND

ND

ND

ND

  

NA not available, ND not determined because of non-availability or non-applicability

Copyright information

© Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  • Jing Zhang
    • 1
    • 2
  • Tomasz Gambin
    • 1
    • 3
    • 4
  • Bo Yuan
    • 1
    • 2
  • Przemyslaw Szafranski
    • 1
  • Jill A. Rosenfeld
    • 1
  • Mohammed Al Balwi
    • 5
  • Abdulrahman Alswaid
    • 6
  • Lihadh Al-Gazali
    • 7
  • Aisha M. Al Shamsi
    • 8
  • Makanko Komara
    • 9
  • Bassam R. Ali
    • 9
  • Elizabeth Roeder
    • 1
    • 10
  • Laura McAuley
    • 11
  • Daniel S. Roy
    • 12
  • David K. Manchester
    • 13
  • Pilar Magoulas
    • 1
  • Lauren E. King
    • 14
  • Vickie Hannig
    • 14
  • Dominique Bonneau
    • 15
    • 16
  • Anne-Sophie Denommé-Pichon
    • 15
    • 16
  • Majida Charif
    • 16
  • Thomas Besnard
    • 17
  • Stéphane Bézieau
    • 17
  • Benjamin Cogné
    • 17
  • Joris Andrieux
    • 18
  • Wenmiao Zhu
    • 1
    • 2
  • Weimin He
    • 1
    • 2
  • Francesco Vetrini
    • 1
    • 2
  • Patricia A. Ward
    • 1
    • 2
  • Sau Wai Cheung
    • 1
    • 2
  • Weimin Bi
    • 1
    • 2
  • Christine M. Eng
    • 1
    • 2
  • James R. Lupski
    • 1
    • 19
    • 20
    • 21
  • Yaping Yang
    • 1
    • 2
  • Ankita Patel
    • 1
    • 2
  • Seema R. Lalani
    • 1
    • 2
  • Fan Xia
    • 1
    • 2
    Email author
  • Paweł Stankiewicz
    • 1
    • 2
    Email author
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  2. 2.Baylor GeneticsHoustonUSA
  3. 3.Institute of Computer ScienceWarsaw University of TechnologyWarsawPoland
  4. 4.Department of Medical GeneticsInstitute of Mother and ChildWarsawPoland
  5. 5.Pathology and Laboratory Medicine, King Abdulaziz Medical CityRiyadhSaudi Arabia
  6. 6.Department of PediatricsKing Abdulaziz Medical CityRiyadhSaudi Arabia
  7. 7.Department of Pediatrics, College of Medicine and Health SciencesUnited Arab Emirates UniversityAl AinUnited Arab Emirates
  8. 8.Department of PediatricsTawam HospitalAl AinUnited Arab Emirates
  9. 9.Department of Pathology, College of Medicine and Health SciencesUnited Arab Emirates UniversityAl AinUnited Arab Emirates
  10. 10.Departments of Pediatrics and Molecular and Human GeneticsBaylor College of MedicineSan AntonioUSA
  11. 11.UT Southwestern Medical CenterChildren’s Health Children’s Medical CenterDallasUSA
  12. 12.Tripler Army Medical CenterHonoluluUSA
  13. 13.Genetics and MetabolismChildren’s HospitalAuroraUSA
  14. 14.Vanderbilt Children’s HospitalNashvilleUSA
  15. 15.Department of Biochemistry and GeneticsUniversity HospitalAngers Cedex 9France
  16. 16.UMR CNRS 6015-INSERM 1083 and PREMMIUniversity of AngersAngers Cedex 9France
  17. 17.CHU Nantes, Service de Génétique MédicaleNantes Cedex 1France
  18. 18.Institute of Medical Genetics, Jeanne de Flandre HospitalLille University HospitalLilleFrance
  19. 19.Department of PediatricsBaylor College of MedicineHoustonUSA
  20. 20.Human Genome Sequencing CenterBaylor College of MedicineHoustonUSA
  21. 21.Texas Children’s HospitalHoustonUSA

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